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Título : | Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency |
Autor : | Arias Sierra, Andrés Augusto Moncada Vélez, Marcela Campbell, Tessa Mollie Liu, Zhiyong Zhang, Qian Covill, Laura E Zhang, Peng Darazam, Ilad Alavi Bastard, Paul Bizien, Lucy Bucciol, Giorgia Enoksson, Sara Lind Jouanguy, Emmanuelle Karabela, Şemsi Nur Khan, Taushif Kendir-Demirkol, Yasemin Mansouri, Davood Marits, Per Marr, Nico Migeotte, Isabelle Moens, Leen Ozcelik, Tayfun Pellier, Isabelle Sendel, Anton Şenoğlu, Sevtap Shahrooei, Mohammad Smith, C I Edvard Vandernoot, Isabelle Willekens, Karen Yaşar, Kadriye Kart Bergman, Peter Abel, Laurent Cobat, Aurélie Casanova, Jean-Laurent Meyts, Isabelle Bryceson, Yenan T |
metadata.dc.subject.*: | COVID-19 Influenza, Human Gripe Humana SARS-CoV-2 Virus Diseases Virosis Viruses Virus https://id.nlm.nih.gov/mesh/D000086382 https://id.nlm.nih.gov/mesh/D007251 https://id.nlm.nih.gov/mesh/D000086402 https://id.nlm.nih.gov/mesh/D014777 https://id.nlm.nih.gov/mesh/D014780 |
Fecha de publicación : | 2022 |
Editorial : | Rockefeller University Press |
Citación : | Campbell TM, Liu Z, Zhang Q, Moncada-Velez M, Covill LE, Zhang P, Alavi Darazam I, Bastard P, Bizien L, Bucciol G, Lind Enoksson S, Jouanguy E, Karabela ŞN, Khan T, Kendir-Demirkol Y, Arias AA, Mansouri D, Marits P, Marr N, Migeotte I, Moens L, Ozcelik T, Pellier I, Sendel A, Şenoğlu, S, Shahrooei M, Smith CIE, Vandernoot I, Willekens K, Kart Yaşar K; COVID Human Genetic Effort; Bergman P, Abel L, Cobat A, Casanova JL, Meyts I, Bryceson YT. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022 Jul 4;219(7):e20220202. doi: 10.1084/jem.20220202. Epub 2022 Jun 7. Erratum in: J Exp Med. 2022 Dec 5;219(12):e2022020210282022c. doi: 10.1084/jem.2022020210282022 |
Resumen : | ABSTRACT: Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity. |
metadata.dc.identifier.eissn: | 1540-9538 |
ISSN : | 0022-1007 |
metadata.dc.identifier.doi: | 10.1084/jem.20220202 |
Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
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Fichero | Descripción | Tamaño | Formato | |
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AriasAndres_2022_Respiratory_Viral_Infections.pdf | Artículo de investigación | 3.78 MB | Adobe PDF | Visualizar/Abrir |
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